Canonical Allele Identifier: CA355012315

Gene: CLRN1 CLRN1-AS1

Linked Data

• gnomAD v4: 3-150972705-G-C
• MyVariant Identifiers: chr3:g.150690492G>C (hg19) ; chr3:g.150972705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972705G>C , CM000665.2:g.150972705G>C	GRCh38
NC_000003.11:g.150690492G>C , CM000665.1:g.150690492G>C	GRCh37
NC_000003.10:g.152173182G>C	NCBI36
NG_009168.1:g.5295C>G , LRG_700:g.5295C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.4C>G (CLRN1) MANE Select	ENSP00000322280.1:p.Pro2Ala
ENST00000327047.5:c.4C>G (CLRN1)	ENSP00000322280.1:p.Pro2Ala
ENST00000328863.8:c.4C>G (CLRN1)	ENSP00000329158.4:p.Pro2Ala
ENST00000472224.1:n.10C>G (CLRN1)
NM_001195794.1:c.4C>G , LRG_700t1:c.4C>G (CLRN1)	NP_001182723.1:p.Pro2Ala
NM_001256819.1:c.4C>G (CLRN1)	NP_001243748.1:p.Pro2Ala
NM_174878.2:c.4C>G (CLRN1)	NP_777367.1:p.Pro2Ala
NR_024066.1:n.28G>C (CLRN1-AS1)
NR_046380.2:n.295C>G (CLRN1)
XR_924167.1:n.316C>G (CLRN1)
NR_024066.2:n.28G>C (CLRN1-AS1)
NM_001256819.2:c.4C>G (CLRN1)	NP_001243748.1:p.Pro2Ala
NM_174878.3:c.4C>G (CLRN1) MANE Select	NP_777367.1:p.Pro2Ala
NR_046380.3:n.23C>G (CLRN1)